ENSG00000174125


Homo sapiens

Features
Gene ID: ENSG00000174125
  
Biological name :TLR1
  
Synonyms : Q15399 / TLR1 / toll like receptor 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p14
Gene start: 38790677
Gene end: 38856817
  
Corresponding Affymetrix probe sets: 210176_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000423725
Ensembl peptide - ENSP00000354932
Ensembl peptide - ENSP00000424894
Ensembl peptide - ENSP00000421259
Ensembl peptide - ENSP00000423017
Ensembl peptide - ENSP00000421856
NCBI entrez gene - 7096     See in Manteia.
OMIM - 601194
RefSeq - XM_017008572
RefSeq - XM_005262662
RefSeq - XM_011513742
RefSeq - XM_011513743
RefSeq - XM_011513744
RefSeq - XM_011513745
RefSeq - XM_017008571
RefSeq - NM_003263
RefSeq Peptide - NP_003254
swissprot - D6RCE8
swissprot - D6RAP2
swissprot - D6RA99
swissprot - D6RF68
swissprot - Q15399
Ensembl - ENSG00000174125
  
Related genetic diseases (OMIM): 613223 - {Leprosy, protection against}, 613223
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tlr1ENSDARG00000100649Danio rerio
 TLR1AENSGALG00000017485Gallus gallus
 TLR1BENSGALG00000027093Gallus gallus
 Tlr1ENSMUSG00000044827Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TLR6 / Q9Y2C9 / toll like receptor 6ENSG0000017413069
TLR10 / Q9BXR5 / toll like receptor 10ENSG0000017412349
TLR2 / O60603 / toll like receptor 2ENSG0000013746228
TLR4 / O00206 / toll like receptor 4ENSG0000013686922
TLR8 / Q9NR97 / toll like receptor 8ENSG0000010191621
TLR3 / O15455 / toll like receptor 3ENSG0000016434220
TLR9 / Q9NR96 / toll like receptor 9ENSG0000023973220
AC097637.1ENSG0000017336620
TLR5 / O60602 / toll like receptor 5ENSG0000018755419
TLR7 / Q9NYK1 / toll like receptor 7ENSG0000019666419
CD180 / Q99467 / CD180 moleculeENSG0000013406112


Protein motifs (from Interpro)
Interpro ID Name
 IPR000157  Toll/interleukin-1 receptor homology (TIR) domain
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR027190  Toll-like receptor 1
 IPR032675  Leucine-rich repeat domain superfamily
 IPR035897  Toll/interleukin-1 receptor homology (TIR) domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001775 cell activation IDA
 biological_processGO:0002224 toll-like receptor signaling pathway TAS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0006952 defense response IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0006955 immune response TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0034130 toll-like receptor 1 signaling pathway IEA
 biological_processGO:0034137 positive regulation of toll-like receptor 2 signaling pathway IGI
 biological_processGO:0038123 toll-like receptor TLR1:TLR2 signaling pathway TAS
 biological_processGO:0042116 macrophage activation NAS
 biological_processGO:0042495 detection of triacyl bacterial lipopeptide IDA
 biological_processGO:0042535 positive regulation of tumor necrosis factor biosynthetic process IEA
 biological_processGO:0042742 defense response to bacterium IBA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045410 positive regulation of interleukin-6 biosynthetic process IEA
 biological_processGO:0050707 regulation of cytokine secretion IEA
 biological_processGO:0071727 cellular response to triacyl bacterial lipopeptide IDA
 biological_processGO:2000484 positive regulation of interleukin-8 secretion IGI
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane NAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030670 phagocytic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0035354 Toll-like receptor 1-Toll-like receptor 2 protein complex IDA
 cellular_componentGO:0045121 membrane raft IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0035663 Toll-like receptor 2 binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0071723 lipopeptide binding IBA


Pathways (from Reactome)
Pathway description
ER-Phagosome pathway
Beta defensins
MyD88:Mal cascade initiated on plasma membrane
Toll Like Receptor TLR1:TLR2 Cascade
MyD88 deficiency (TLR2/4)
IRAK4 deficiency (TLR2/4)
Regulation of TLR by endogenous ligand


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000134070 IRAK2 / O43187 / interleukin 1 receptor associated kinase 2  / reaction / complex
 ENSG00000170458 CD14 / P08571 / CD14 molecule  / complex / reaction
 ENSG00000172936 MYD88 / Q99836 / myeloid differentiation primary response 88  / complex / reaction
 ENSG00000184216 IRAK1 / P51617 / interleukin 1 receptor associated kinase 1  / complex / reaction
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000198001 IRAK4 / Q9NWZ3 / interleukin 1 receptor associated kinase 4  / complex / reaction
 ENSG00000010671 BTK / Q06187 / Bruton tyrosine kinase  / complex / reaction
 ENSG00000150455 TIRAP / P58753 / TIR domain containing adaptor protein  / reaction / complex
 ENSG00000137462 TLR2 / O60603 / toll like receptor 2  / complex
 ENSG00000177243 P81534 / DEFB103B / defensin beta 103B  / complex / reaction
 ENSG00000185303 Q8IWL1 / SFTPA2 / surfactant protein A2  / reaction / complex
 ENSG00000133661 SFTPD / P35247 / surfactant protein D  / complex / reaction
 ENSG00000122852 Q8IWL2 / SFTPA1 / surfactant protein A1  / complex / reaction






 

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